|Institutional Source||Beutler Lab|
|Gene Name||histocompatibility 2, class II antigen E beta|
|Synonyms||H-2Eb, Ia-4, Ia4|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5605 (G1)|
|Chromosomal Location||34305877-34316199 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 34309833 bp|
|Amino Acid Change||Serine to Proline at position 113 (S113P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000074143 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000074557]|
|Predicted Effect||probably benign
AA Change: S113P
PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: S113P
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (55/55)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB5 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in H2-Eb1||
(F):5'- CGGCTTCTGGAAAGATACTTCTAC -3'
(R):5'- TCAGCAGTTAATGGTACCAAGG -3'
(F):5'- CTGGAAAGATACTTCTACAACCTGG -3'
(R):5'- AATTCCGTTCCCCTGCCAAGAG -3'